Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2014 2
2015 2
2016 2
2019 1
2020 2
2021 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Page 1
Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies.
Hulleman JD. Hulleman JD. Adv Exp Med Biol. 2016;854:153-8. doi: 10.1007/978-3-319-17121-0_21. Adv Exp Med Biol. 2016. PMID: 26427406 Review.
An Arg345Trp (R345W) mutation in F3 was identified as the cause of a rare retinal dystrophy, Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy (ML/DHRD). ML/DHRD shares many phenotypic similarities with age-related macular degeneration (AMD). ...
An Arg345Trp (R345W) mutation in F3 was identified as the cause of a rare retinal dystrophy, Malattia Leventinese/Doyne Honeycomb Ret …
The Pathophysiological Significance of Fibulin-3.
Livingstone I, Uversky VN, Furniss D, Wiberg A. Livingstone I, et al. Biomolecules. 2020 Sep 8;10(9):1294. doi: 10.3390/biom10091294. Biomolecules. 2020. PMID: 32911658 Free PMC article. Review.
A point mutation in EFEMP1 causes an inherited early-onset form of macular degeneration called Malattia Leventinese/Doyne honeycomb retinal dystrophy (ML/DHRD). EFEMP1 genetic variants have also been associated in genome-wide association studies with numerous complex inher …
A point mutation in EFEMP1 causes an inherited early-onset form of macular degeneration called Malattia Leventinese/Doyne honeycomb r …
Mapping wild-type and R345W fibulin-3 intracellular interactomes.
Hulleman JD, Genereux JC, Nguyen A. Hulleman JD, et al. Exp Eye Res. 2016 Dec;153:165-169. doi: 10.1016/j.exer.2016.10.017. Epub 2016 Oct 21. Exp Eye Res. 2016. PMID: 27777122 Free PMC article. Review.
An Arg345Trp (R345W) mutation in F3 causes the rare, autosomal dominant macular dystrophy, Malattia Leventinese. The purpose of this study was to identify and validate novel intracellular interacting partners of wild-type (WT) and R345W F3 in retinal pigment epithelium cel …
An Arg345Trp (R345W) mutation in F3 causes the rare, autosomal dominant macular dystrophy, Malattia Leventinese. The purpose of this …
The Efemp1R345W Macular Dystrophy Mutation Causes Amplified Circadian and Photophobic Responses to Light in Mice.
Thompson S, Blodi FR, Larson DR, Anderson MG, Stasheff SF. Thompson S, et al. Invest Ophthalmol Vis Sci. 2019 May 1;60(6):2110-2117. doi: 10.1167/iovs.19-26881. Invest Ophthalmol Vis Sci. 2019. PMID: 31095679 Free PMC article.
PURPOSE: The R345W mutation in EFEMP1 causes malattia leventinese, an autosomal dominant eye disease with pathogenesis similar to an early-onset age-related macular degeneration. ...An amplified response to light in melanopsin-expressing intrinsically photosensitive retina …
PURPOSE: The R345W mutation in EFEMP1 causes malattia leventinese, an autosomal dominant eye disease with pathogenesis similar to an …
Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization.
Woodard DR, Nakahara E, Hulleman JD. Woodard DR, et al. Sci Rep. 2021 Feb 4;11(1):2998. doi: 10.1038/s41598-020-79570-x. Sci Rep. 2021. PMID: 33542268 Free PMC article.
Distinct mutations in the secreted extracellular matrix protein, fibulin-3 (F3), have been associated with a number of ocular diseases ranging from primary open angle glaucoma to cuticular age-related macular degeneration to a rare macular dystrophy, Malattia Leventinese ( …
Distinct mutations in the secreted extracellular matrix protein, fibulin-3 (F3), have been associated with a number of ocular diseases rangi …
Ocular Amyloid, Condensates, and Aggregates - Higher-Order Protein Assemblies Participate in Both Retinal Degeneration and Function.
Hayes MH, Woodard DR, Hulleman JD. Hayes MH, et al. Adv Exp Med Biol. 2023;1415:263-267. doi: 10.1007/978-3-031-27681-1_38. Adv Exp Med Biol. 2023. PMID: 37440043
Within the eye, protein aggregation has also been implicated in various retinal degenerative diseases ranging from retinitis pigmentosa (RP) to Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy (ML/DHRD) to age-related macular degeneration (AMD). ...
Within the eye, protein aggregation has also been implicated in various retinal degenerative diseases ranging from retinitis pigmentosa (RP) …
Differential tolerance of 'pseudo-pathogenic' tryptophan residues in calcium-binding EGF domains of short fibulin proteins.
Nguyen A, Hulleman JD. Nguyen A, et al. Exp Eye Res. 2015 Jan;130:66-72. doi: 10.1016/j.exer.2014.12.002. Epub 2014 Dec 3. Exp Eye Res. 2015. PMID: 25481286 Free PMC article.
An Arg345Trp (R345W) mutation in the last canonical calcium-binding epidermal growth factor (cbEGF) domain of fibulin-3 (F3) causes the rare macular dystrophy, Malattia Leventinese (ML). In cell culture studies, this mutation leads to inefficient F3 secretion and higher in …
An Arg345Trp (R345W) mutation in the last canonical calcium-binding epidermal growth factor (cbEGF) domain of fibulin-3 (F3) causes the rare …
Genetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration.
Hulleman JD, Kelly JW. Hulleman JD, et al. FASEB J. 2015 Feb;29(2):565-75. doi: 10.1096/fj.14-255414. Epub 2014 Nov 11. FASEB J. 2015. PMID: 25389134 Free PMC article.
Inheritance of this mutation causes the retinal dystrophy malattia leventinese. N-Linked glycosylation is a common cotranslational protein modification that can regulate protein folding efficiency and energetics. ...
Inheritance of this mutation causes the retinal dystrophy malattia leventinese. N-Linked glycosylation is a common cotranslational pr …